ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg)

dbSNP: rs1569316056
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698231 SCV000826883 pathogenic Developmental and epileptic encephalopathy, 9 2020-01-04 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PCDH19 protein function. For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of PCDH19-related epilepsy (PMID: 22946748,21053371, 27179713). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 81 of the PCDH19 protein (p.Leu81Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.